CHRNE

CHRNE is a gene that provides instructions for making a protein that is critical for normal nerve-muscle communication. The CHRNE gene is part of a family of genes that produce acetylcholine receptors. These receptors are located in the neuromuscular junction, which is the connection between nerve cells and muscle cells.

Structure

The CHRNE gene is located on the long (q) arm of chromosome 17 at position 13.2. More precisely, the CHRNE gene is located from base pair 46,976,507 to base pair 46,982,773 on chromosome 17.

Function

The CHRNE gene provides instructions for making one part (the epsilon subunit) of a protein called the acetylcholine receptor. This receptor is located in the neuromuscular junction, where it plays a key role in transmitting signals from nerve cells to muscle cells. The acetylcholine receptor is made up of five subunits, two alpha subunits and one each of beta, delta, and epsilon subunits. The epsilon subunit produced from the CHRNE gene is essential for the normal function of this receptor.

Clinical significance

Mutations in the CHRNE gene can cause a form of congenital myasthenic syndrome, a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical activity. The muscle weakness typically begins in early childhood and primarily affects muscles that control movement in the eyes, face, and throat. This can lead to difficulties with eye movement, swallowing, and speech.

See also

• Acetylcholine receptor
• Neuromuscular junction
• Congenital myasthenic syndrome

External links

• CHRNE at the National Center for Biotechnology Information